My seven-month-old daughter Fíadh is a dream. She is a beautiful baby who smiles all the time and never cries – and she has Angelman Syndrome.
The heartbreaking reality is my child will never speak, and she may never walk. Angelman's babies need supervision 24 hours a day. Their bodies grow at a normal rate, but their neurological development remains that of a toddler.
She will get seizures, and our lives will be a constant revolving door of emergency hospital visits. She could die suddenly from something as ordinary as a stomach-ache or pneumonia.
She will never be able to tell me what's wrong or where it hurts.
I might not be that good at many things, but the one thing I am good at is being a mum. I will do anything in the world for our little girl even if that means leaving everything we know – and love – to move to America to take part in new drug trials that are starting to show promising results.
I call Fíadh my miracle baby because in so many ways that's what she is. She wasn't planned; I got pregnant a few months after I started seeing her dad Gareth. Doctors had told me I'd never had a child naturally because I suffered from Polycystic Ovarian Syndrome. Conceiving without drugs was the last thing I thought would happen.
A difficult start
Fíadh was born on 18 April 2020. I was 37 weeks pregnant, so she was premature. She had breathing problems from the outset and spent the first five days of her life in NICU. As a first-time mum, I was so scared because I desperately wanted her to be okay. After she came out of intensive care, she slept for two weeks – absolute bliss. There I was with this precious child who was perfect in every way who spent all her time sleeping.
Then she woke up; started screaming and wouldn't stop.
No matter what I did, I couldn't settle her. I didn't sleep at all during this time; I can honestly say it was the hardest two weeks of my life. It turned out she had colic and reflux. After she was prescribed medication, the crying stopped.
Then, she didn't cry at all.
Around this point, she also started smiling these huge beaming smiles, then came sleeplessness. From 10pm to 6am she lay in her cot wide-awake, happy and content. I'd been around babies my entire life and knew deep down her behaviour wasn't normal.
I started telling people I was worried. I took her to an infant sleep school to get some help, they told me "I was a really good mum" and that I just had a " happy baby".
Despite assurances, I knew I needed to take things further. I knew in my gut something was wrong.
Our worst fears were confirmed
On September 29, 2020, our paediatrician phoned to tell me Fíadh had Angelman's Syndrome.
Before visiting him, I started researching her symptoms, and I had watched a video about Angelman's. During our consultation, I brought up the possibility she may have the syndrome. I think this shocked him because the condition is so rare – it affects just one in 20,000 children. He examined her and requested genetic testing. Then we waited for the results. Not knowing was purgatory; after the call, it was pure hell.
Once the shock wore off, I did what has helped me through the most difficult times: I reached out to others for support. I connected with Facebook groups for parents of Angelman children in the US, Australia, New Zealand, the UK and the Philippines. I saturated myself in research because I wanted to know everything – and if there was anything I could do.
A missing gene on the maternal side causes Angelman's. This gene is essential because it creates a protein by the name of UBE3A. This protein is responsible for enabling functions like walking, talking and moving.
Treatment is essential from an early age. The tricky thing is while Fíadh was born in Australia, I am a Kiwi and Gareth is Irish. We aren't able to access support via the National Disability Insurance Scheme. A month's costs are around $3,000. We see a physiotherapist twice a week, we have an appointment with an occupational therapist every second week, and we see a speech pathologist every month.
A better future for our daughter
I have my heart set on a better future for Fíadh, and with new drug trials working toward developing a cure I plan to make this happen. Currently, I am raising funds to enable Fíadh and myself to move to North Carolina, US where a series of trials are taking place.
The move is a logistical nightmare and will split our family, but recent findings from one trial on a group of children between the ages of five and fifteen are encouraging. All participants have started making attempts toward speech; wheelchair-bound children are attempting to walk. Most promising is one of the children, aged 11, who was completely non-verbal has started saying nine words.
The treatment regime will be tough. It will involve sedating Fíadh and injecting the drug into her spine. But I honestly believe is important for us to be part of this because I know I have to do everything in my power help her.
Our goal is $100,000. The money will cover lawyer's fees, flights, relocation costs and setting up our home to cater to Fíadh's needs. The trial we hope to be part of will run for 58 weeks. The first three injections are free then we will be required to pay $10,000 per injection every four months. Fíadh will still need her therapeutic treatment and to see specialists. Emergency hospital visits are likely and could cost upwards of $10,000 for a single stay.
No other option
Plenty of people have said we won't get into a trial but I am convinced we have more than a fair chance. I am lucky enough to have an uncle who is a chief scientific officer who lives in North Carolina. He has offered to help do whatever he can to ensure we secure a place. The Angelman Foundation is also backing us. If we can get there, we have a chance.
Days ago Fíadh had a terrifying seizure lasting 45 minutes. We watched as she choked on her own vomit on the way to hospital; we prayed she wouldn't stop breathing before we got there.
So, yes, upending our lives is a risk. And yes, Covid-19 is throwing up roadblocks. But I live in hope one day I will hear my daughter say mum or if she is in pain she can tell me where it hurts.
That would mean the world.
As told to Emilia Mazza